Synonymous ADAMTS13 variants predicted to affect miRNA-binding sites
sSNV . | ID . | Exon . | Domain . | AA # . | AA . | miRNA . | Effect . |
---|---|---|---|---|---|---|---|
972C>T | rs782268976 | 8 | D | 324 | F | miR-8073 | Gain |
972C>T | rs782268976 | 8 | D | 324 | F | miR-221-5p | Gain |
1473C>T | rs140501683 | 13 | C | 479 | G | miR-6511b-3p | Gain |
1473C>T | rs140501683 | 13 | C | 479 | G | miR-6511a-3p | Gain |
1833C>T | rs1373112883 | 16 | S | 611 | I | miR-6783-5p | Gain |
1923G>A | rs977615435 | 16 | S | 641 | E | miR-1236-3p | Gain |
2268C>T (*) | rs781923426 | 19 | T3 | 756 | A | miR-4695-5p | Loss |
2631G>A (*) | rs782772606 | 21 | T4/T5 | 877 | G | miR-6810-3p | Loss |
2631G>A | rs782772606 | 21 | T4/T5 | 877 | G | miR-6801-3p | Loss |
2643C>T (*) | rs1260442569 | 21 | T4/T5 | 881 | P | miR-6780b-5p | Gain |
2643C>T (*) | rs1260442569 | 21 | T4/T5 | 877 | G | miR-4725-3p | Gain |
2643C>T (*) | rs1260442569 | 21 | T4/T5 | 877 | G | miR-6825-5p | Loss |
3513G>A | rs368634068 | 25 | T8/CUB1 | 1171 | P | miR-4731-5p | Gain |
4272G>A | rs938453395 | 29 | CUB2 | 1409 | Q | miR-1248 | Gain |
sSNV . | ID . | Exon . | Domain . | AA # . | AA . | miRNA . | Effect . |
---|---|---|---|---|---|---|---|
972C>T | rs782268976 | 8 | D | 324 | F | miR-8073 | Gain |
972C>T | rs782268976 | 8 | D | 324 | F | miR-221-5p | Gain |
1473C>T | rs140501683 | 13 | C | 479 | G | miR-6511b-3p | Gain |
1473C>T | rs140501683 | 13 | C | 479 | G | miR-6511a-3p | Gain |
1833C>T | rs1373112883 | 16 | S | 611 | I | miR-6783-5p | Gain |
1923G>A | rs977615435 | 16 | S | 641 | E | miR-1236-3p | Gain |
2268C>T (*) | rs781923426 | 19 | T3 | 756 | A | miR-4695-5p | Loss |
2631G>A (*) | rs782772606 | 21 | T4/T5 | 877 | G | miR-6810-3p | Loss |
2631G>A | rs782772606 | 21 | T4/T5 | 877 | G | miR-6801-3p | Loss |
2643C>T (*) | rs1260442569 | 21 | T4/T5 | 881 | P | miR-6780b-5p | Gain |
2643C>T (*) | rs1260442569 | 21 | T4/T5 | 877 | G | miR-4725-3p | Gain |
2643C>T (*) | rs1260442569 | 21 | T4/T5 | 877 | G | miR-6825-5p | Loss |
3513G>A | rs368634068 | 25 | T8/CUB1 | 1171 | P | miR-4731-5p | Gain |
4272G>A | rs938453395 | 29 | CUB2 | 1409 | Q | miR-1248 | Gain |
All 3 tools (miRDB, PACCMIT, and TargetScan nucleotides 2-8 seed) predict 9 sSNVs to affect 14 miRNA-binding sites within the coding region of WT ADAMTS13. Asterisks highlight variants also predicted to affect miRNA binding. AA, amino acid; C, cysteine-rich; D, disintegrin-like; S, spacer.